A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210828



Internal ID22358598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:112746445..112752171hg38UCSC Ensembl
Outerchr3:112465292..112471018hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg383155
hg193155
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272251, nssv14272250, nssv14272249, nssv14272248, nssv14272252
SamplesHG00512, NA19238, NA19240, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210828
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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